Human Phenotype Ontology 
Grandparent Node:
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Decreased adipose tissue (HP:0040063)help
Parent Node:
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Adipose tissue loss (HP:0008887)help
..Starting node
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obsolete Lack of subcutaneous fatty tissue (HP:0007519)help
Term ID: 7519
Name: obsolete Lack of subcutaneous fatty tissue
Synonym:
Definition:
Comments:
Reference: HP:0007519
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsence of subcutaneous fat (HP:0007485) help
..expandLoss of facial adipose tissue (HP:0000292) help
..expandLoss of gluteal subcutaneous adipose tissue (HP:0009017) help
..expandLoss of subcutaneous adipose tissue in limbs (HP:0003635) help
..expandLoss of truncal subcutaneous adipose tissue (HP:0009002) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007519HP:0007519obsolete Lack of subcutaneous fatty tissue0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0007519HP:0007519obsolete Lack of subcutaneous fatty tissue0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0007519HP:0007519obsolete Lack of subcutaneous fatty tissue0ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM15383436133520
HP:0007519HP:0007519obsolete Lack of subcutaneous fatty tissue0ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM14693436133520
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2) :ERCC2 ERCC4

Diseases (2) :601675 610965
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.